Canonical Allele Identifier: CA367644757

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65552761G>C (hg19) ; chr7:g.66087774G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087774G>C , CM000669.2:g.66087774G>C	GRCh38
NC_000007.13:g.65552761G>C , CM000669.1:g.65552761G>C	GRCh37
NC_000007.12:g.65190196G>C	NCBI36
NG_009288.1:g.16986G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.701G>C MANE Select	ENSP00000307188.9:p.Ser234Thr
ENST00000362000.10:c.506G>C	ENSP00000354710.6:p.Ser169Thr
ENST00000380839.9:c.623G>C	ENSP00000370219.4:p.Ser208Thr
ENST00000395331.4:c.701G>C	ENSP00000378740.3:p.Ser234Thr
ENST00000395332.8:c.701G>C	ENSP00000378741.3:p.Ser234Thr
ENST00000671817.1:c.623G>C	ENSP00000500462.1:p.Ser208Thr
ENST00000672498.1:c.492G>C	ENSP00000500227.1:p.Ter164Tyr
ENST00000672586.1:n.1460G>C
ENST00000672676.1:n.1725G>C
ENST00000673149.1:n.513G>C
ENST00000673350.1:n.1803G>C
ENST00000673518.1:c.623G>C	ENSP00000499889.1:p.Ser208Thr
ENST00000304874.13:c.701G>C	ENSP00000307188.9:p.Ser234Thr
ENST00000362000.9:c.506G>C	ENSP00000354710.5:p.Ser169Thr
ENST00000380839.8:c.623G>C	ENSP00000370219.4:p.Ser208Thr
ENST00000395331.3:c.701G>C	ENSP00000378740.3:p.Ser234Thr
ENST00000395332.7:c.701G>C	ENSP00000378741.3:p.Ser234Thr
ENST00000450043.2:c.14G>C	ENSP00000396527.2:p.Ser5Thr
ENST00000493708.5:n.82G>C
NM_000048.3:c.701G>C	NP_000039.2:p.Ser234Thr
NM_001024943.1:c.701G>C	NP_001020114.1:p.Ser234Thr
NM_001024944.1:c.701G>C	NP_001020115.1:p.Ser234Thr
NM_001024946.1:c.623G>C	NP_001020117.1:p.Ser208Thr
NM_000048.4:c.701G>C MANE Select	NP_000039.2:p.Ser234Thr
NM_001024943.2:c.701G>C	NP_001020114.1:p.Ser234Thr
NM_001024944.2:c.701G>C	NP_001020115.1:p.Ser234Thr
NM_001024946.2:c.623G>C	NP_001020117.1:p.Ser208Thr